ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.81G>T (p.Leu27=)

gnomAD frequency: 0.00001  dbSNP: rs549257131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953852 SCV001100446 benign Loeys-Dietz syndrome 2 2022-07-29 criteria provided, single submitter clinical testing

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